TGFBR3
transforming growth factor beta receptor 3
Summary
This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]
Known Variants86 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1805117 | 1:92,148,839 | T/A | — | — |
| rs1131243 | 1:92,149,277 | C/G | — | — |
| rs147885293 | 1:92,149,303 | G/A | — | uncertain significance |
| rs1405932050 | 1:92,149,305 | G/T | — | uncertain significance |
| rs193920827 | 1:92,149,333 | G/A | — | uncertain significance |
| rs1490598813 | 1:92,149,340 | C/T | — | uncertain significance |
| rs760042952 | 1:92,149,391 | C/G | — | uncertain significance |
| rs80151214 | 1:92,157,142 | A/G | intron variant | — |
| rs137909765 | 1:92,161,298 | T/A | — | likely benign |
| rs200400158 | 1:92,161,339 | A/G | — | likely benign |
| rs2253316 | 1:92,161,515 | T/A | intron variant | — |
| rs2228363 | 1:92,163,646 | G/A | — | likely benign |
| rs17882828 | 1:92,163,682 | C/G | — | benign |
| rs2296621 | 1:92,163,786 | G/T | regulatory region variant | — |
| rs284875 | 1:92,170,708 | A/G | intron variant | — |
| rs1262468976 | 1:92,174,241 | G/A | — | uncertain significance |
| rs284878 | 1:92,174,260 | A/G | — | benign |
| rs151016095 | 1:92,174,266 | C/T | — | likely benign |
| rs150162893 | 1:92,174,304 | C/T | — | uncertain significance |
| rs143550507 | 1:92,174,305 | G/A | — | likely benign |
| rs2524194650 | 1:92,174,321 | G/A | — | uncertain significance |
| rs11165300 | 1:92,177,663 | T/G | intron variant | — |
| rs760566089 | 1:92,177,834 | G/A | — | uncertain significance |
| rs778850853 | 1:92,177,843 | G/A | — | uncertain significance |
| rs1805113 | 1:92,177,938 | A/G | synonymous variant | benign |
| rs147485470 | 1:92,177,939 | A/G | — | uncertain significance |
| rs748078614 | 1:92,177,952 | T/C | — | uncertain significance |
| rs1426545242 | 1:92,178,047 | A/C | — | uncertain significance |
| rs116282609 | 1:92,181,787 | T/A | — | likely benign |
| rs1485865310 | 1:92,181,828 | A/G | — | uncertain significance |
| rs757151934 | 1:92,181,831 | C/T | — | uncertain significance |
| rs114901303 | 1:92,181,832 | G/A | — | likely benign |
| rs17884575 | 1:92,181,889 | G/A | — | benign |
| rs751439439 | 1:92,181,951 | A/C | — | uncertain significance |
| rs766413439 | 1:92,182,145 | T/G | — | uncertain significance |
| rs1672184607 | 1:92,182,185 | T/C | — | likely benign |
| rs760530231 | 1:92,182,249 | G/T | — | uncertain significance |
| rs12735851 | 1:92,182,699 | G/T | intron variant | — |
| rs138396794 | 1:92,184,966 | T/C | — | uncertain significance |
| rs753218529 | 1:92,185,003 | T/A | — | uncertain significance |
| rs139306280 | 1:92,185,521 | C/T | — | likely benign |
| rs2229500 | 1:92,185,522 | A/G | — | benign |
| rs763397177 | 1:92,185,548 | T/C | — | uncertain significance |
| rs201034517 | 1:92,185,595 | C/T | — | uncertain significance |
| rs766001542 | 1:92,185,596 | G/A | — | uncertain significance |
| rs145694501 | 1:92,185,631 | C/T | — | uncertain significance |
| rs752629058 | 1:92,185,632 | T/C | — | uncertain significance |
| rs781269907 | 1:92,185,647 | G/C | — | uncertain significance |
| rs1805112 | 1:92,185,657 | T/C | — | benign |
| rs753445562 | 1:92,185,689 | G/A | — | uncertain significance |
| rs371268765 | 1:92,185,700 | T/A | — | uncertain significance |
| rs780456773 | 1:92,185,703 | T/C | — | uncertain significance |
| rs11466595 | 1:92,185,735 | A/G | — | benign |
| rs760206017 | 1:92,185,749 | G/A | — | uncertain significance |
| rs2524269178 | 1:92,185,779 | T/A | — | uncertain significance |
| rs764796295 | 1:92,185,781 | T/G | — | uncertain significance |
| rs202193233 | 1:92,187,526 | C/T | — | uncertain significance |
| rs11466592 | 1:92,187,536 | A/T | — | likely benign |
| rs149079126 | 1:92,187,652 | A/G | — | likely benign |
| rs369086061 | 1:92,193,336 | A/T | — | uncertain significance |
| rs11165354 | 1:92,194,322 | C/A | intron variant | — |
| rs1672700899 | 1:92,195,423 | G/T | — | uncertain significance |
| rs898918000 | 1:92,195,483 | G/T | — | uncertain significance |
| rs1046761273 | 1:92,195,489 | G/C | — | uncertain significance |
| rs2306888 | 1:92,200,382 | T/C | — | benign |
| rs766091481 | 1:92,200,424 | A/G | — | likely benign |
| rs755000509 | 1:92,200,435 | C/T | — | likely benign |
| rs41286789 | 1:92,200,437 | T/C | — | likely benign |
| rs17883665 | 1:92,200,448 | C/T | — | likely benign |
| rs2524357111 | 1:92,200,450 | T/C | — | uncertain significance |
| rs375529061 | 1:92,200,494 | T/C | — | uncertain significance |
| rs1571455869 | 1:92,200,496 | G/A | — | likely benign |
| rs11466577 | 1:92,200,536 | G/A | — | likely benign |
| rs17131547 | 1:92,211,020 | G/A | regulatory region variant | — |
| rs576316969 | 1:92,221,477 | G/A | — | — |
| rs1673839116 | 1:92,224,223 | C/A | — | uncertain significance |
| rs284200 | 1:92,239,336 | C/T | intron variant | — |
| rs2810904 | 1:92,262,874 | T/C | — | benign |
| rs150762460 | 1:92,263,005 | C/G | — | uncertain significance |
| rs147586574 | 1:92,327,034 | T/C | — | likely benign |
| rs1805110 | 1:92,327,045 | G/A | missense variant | benign |
| rs17884205 | 1:92,327,048 | C/T | — | likely benign |
| rs6604061 | 1:92,328,613 | T/A | intron variant | — |
| rs2489188 | 1:92,332,489 | C/T | intron variant | — |
| rs6680463 | 1:92,358,186 | G/C | intron variant | — |
| rs12566180 | 1:92,362,802 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.